The application of whole-exome sequencing in the early diagnosis of rare genetic diseases in children: a study from Southeastern China.

ABSTRACT:

Background

Genetic diseases exhibit significant clinical and genetic diversity, leading to a complex and challenging diagnostic process. Exploiting novel approaches is imperative for the molecular diagnosis of genetic diseases. In this study, we utilized whole-exome sequencing (WES) to facilitate early diagnosis in patients suspected of genetic disorders.

Methods

This retrospective analysis included 144 patients diagnosed by singleton-WES Trio-WES between January 2021 and December 2023. We investigated the relevance of diagnosis rates with age, clinical presentation, and sample type.

Results

Among the 144 patients, 61 were diagnosed, yielding an overall diagnostic rate of 42.36%, with Trio-WES demonstrating a significantly higher diagnostic rate of 51.43% (36/70) comp

SUBMITTER: Lai G 

PROVIDER: S-EPMC11493614 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature